Evidence map›Paper›PMID 39372123›Full record

ReviewNeurology. Genetics2024

Practical Approach to Longitudinal Neurologic Care of Adults With X-Linked Adrenoleukodystrophy and Adrenomyeloneuropathy.

Alexandra B Kornbluh, Aaron Baldwin, Ali Fatemi, Adeline Vanderver, Laura A Adang, Keith Van Haren, Jacinda Sampson, Florian S Eichler, Reza Sadjadi, Marc Engelen and 1 more

Abstract readReview
PubMed Full text at PMC Publisher
In one paragraph

Review in Neurology. Genetics, 2024. The graph could read no effect estimate from its abstract, so it casts no vote on the map. Cited by 7 papers.

0numbers the graph read from it
0cells of the map it votes in
7citing papers in PubMed
–field-weighted citation impact
1 · What the graph read from it

What it found

Each row is one number read from the abstract, on the scale the paper reported it, with its interval. Left of the dashed line favours the treatment, right favours the comparator. Under each row is the sentence it came from. New to these charts? A ten-minute tutorial.

The abstract states no effect estimate the extractor could read, or names no intervention and outcome on the map, so this paper lights no cell and moves no belief. It is still indexed, cited and linked below.

2 · The registry

The trial behind it

Trials whose registry record cites this paper, or whose number appears in the abstract. A trial that started after this paper was published is citing it as background, not reporting it.

Neither the registry nor the abstract names a trial number. If this is a trial report, that itself is worth knowing.

3 · Its place in the literature

Who cites it

7 citing papers in PubMed.

  1. A novel ABCD1 frameshift mutation detected in a Chinese male with adrenomyeloneuropathy.Neurological sciences : official journal of the Italian Neurological Society and of the Italian Society of Clinical Neurophysiology · 2026
    Article
  2. Article
  3. Clinically Relevant Outcome Measures in Women With Adrenoleukodystrophy.Annals of clinical and translational neurology · 2026
    Review
  4. Article
  5. Review
  6. Article
  7. Article
4 · The record

Corrections and comments

PubMed lists nothing against this paper. Absence here is not a guarantee, only a check that was made.

5 · Who and what money

Authors and funding

11 authors.

Alexandra B KornbluhFrom the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.ORCID https://orcid.org/0000-0002-7880-918X
Aaron BaldwinFrom the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.ORCID https://orcid.org/0000-0002-8970-1270
Ali FatemiFrom the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.
Adeline VanderverFrom the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.ORCID https://orcid.org/0000-0002-6290-6751
Laura A AdangFrom the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.ORCID https://orcid.org/0000-0002-8454-1116
Keith Van HarenFrom the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.ORCID https://orcid.org/0000-0002-0233-9361
Jacinda SampsonFrom the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.
Florian S EichlerFrom the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.ORCID https://orcid.org/0000-0001-6836-1089
Reza SadjadiFrom the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.ORCID https://orcid.org/0000-0003-3829-6030
Marc EngelenFrom the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.ORCID https://orcid.org/0000-0002-5346-8497
Jennifer L Orthmann-MurphyFrom the Division of Neurology (A.B.K.), Children's National Hospital, George Washington University Medical School, Washington DC; Division of Neurology (A.B.), Neurogenetics Translational Center of Excellence, University of Pennsylvania, Philadelphia; Kennedy Krieger Institute and The Johns Hopkins University School of Medicine (A.F.), Baltimore, MD; Division of Neurology (A.V., L.A.A.), Children's Hospital of Philadelphia, Perelman School of Medicine, University of Pennsylvania; Department of Neurology and Pediatrics (K.V.H., J.S.), Lucile Packard Children's Hospital, Stanford University School of Medicine, Palo Alto, CA; Department of Neurology (F.S.E., R.S.), Harvard Medical School, Massachusetts General Hospital, Boston; Department of Pediatric Neurology (M.E.), Amsterdam UMC location, University of Amsterdam, Amsterdam Leukodystrophy Center, Emma Children's Hospital, Amsterdam Neuroscience, the Netherlands; and Department of Neurology (J.L.O.-M.), University of Pennsylvania, Philadelphia.ORCID https://orcid.org/0000-0002-2909-1722

Funding

No grant is acknowledged in the PubMed record.

6 · The paper itself

Abstract

Although X-linked adrenoleukodystrophy (ALD) has historically been considered a childhood disease managed by pediatric neurologists, it is one of the most common leukodystrophies diagnosed in adulthood. An increase in both male and female adults reaching diagnosis due to familial cases identified by state newborn screening panels and more widespread use of genetic testing results in a large cohort of presymptomatic or early symptomatic adults. This population is in urgent need of standardized assessments and follow-up care. Adults with ALD/adrenomyeloneuropathy (AMN) may be diagnosed in a variety of ways, including after another family member is identified via genetic testing or newborn screening, presenting for symptomatic evaluation, or following diagnosis with primary adrenal insufficiency. Significant provider, patient, and systems-based barriers prevent adult patients with ALD/AMN from receiving appropriate care, including lack of awareness of the importance of longitudinal neurologic management. Confirmation of and education about the diagnosis should be coordinated in conjunction with a genetic counselor. Routine surveillance for adrenal insufficiency and onset of cerebral ALD (CALD) in men should be performed systematically to avoid preventable morbidity and mortality. While women with ALD do not usually develop cerebral demyelination or adrenal insufficiency, they remain at risk for myeloneuropathy and are no longer considered "carriers." After diagnosis, patients should be connected to the robust support networks, foundations, and research organizations available for ALD/AMN. Core principles of neurologic symptom management parallel those for patients with other etiologies of progressive spastic paraplegia. Appropriate patient candidates for hematopoietic stem cell transplant (HSCT) and other investigational disease-modifying strategies require early identification to achieve optimal outcomes. All patients with ALD/AMN, regardless of sex, age, or symptom severity, benefit from a multidisciplinary approach to longitudinal care spearheaded by the neurologist. This review proposes key strategies for diagnostic confirmation, laboratory and imaging surveillance, approach to symptom management, and guidance for identification of appropriate candidates for HSCT and investigational treatments.

Identifiers

PMID39372123
PMCPMC11450743

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